All transcript variants in gene FTSJ1

Information The variants shown are described using the NM_012280.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.304A>T r.(?) p.(Ile102Phe) - VUS g.48337447A>T g.48479059A>T FTSJ1(NM_012280.2):c.304A>T (p.(Ile102Phe)), FTSJ1(NM_177439.2):c.304A>T (p.I102F) - FTSJ1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.304A>T r.(?) p.(Ile102Phe) - - g.48337447A>T - FTSJ1(NM_012280.2):c.304A>T (p.(Ile102Phe)), FTSJ1(NM_177439.2):c.304A>T (p.I102F) - FTSJ1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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